Canonical Allele Identifier: CA261723969

Gene: SIX1

Linked Data

• dbSNP Id: rs990674079
• gnomAD v3: 14-60649582-G-A
• gnomAD v4: 14-60649582-G-A
• MyVariant Identifiers: chr14:g.61116300G>A (hg19) ; chr14:g.60649582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649582G>A , CM000676.2:g.60649582G>A	GRCh38
NC_000014.8:g.61116300G>A , CM000676.1:g.61116300G>A	GRCh37
NC_000014.7:g.60186053G>A	NCBI36
NG_008231.1:g.4856C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553535.2:n.248+2353C>T
ENST00000554986.2:c.42-3005C>T	ENSP00000452700.2:n.42-3005C>T
ENST00000555955.3:n.1197+2353C>T